Variant ID: 1-55523130-TG-GC

NM_174936.3(PCSK9):c.1123_1124delinsGC;(p.Cys375Ala)

This variant was identified in 1 publication




Publications:


Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.

The Febs Journal
J Cameron, ├śL Holla, KE Berge, MA Kulseth, T Ranheim, TP Leren, JK Laerdahl
Publication Date: 2008-08

Variant appearance in text: PCSK9: C375A
PubMed Link: 18631360
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1123_1124delinsGC p.Cys375Ala missense_variant 7/12 -
ENST00000490692.1 n.1847_1848delinsGC - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.523_524delinsGC p.Cys175Ala missense_variant 5/10 -
NM_174936.4 c.1123_1124delinsGC p.Cys375Ala missense_variant 7/12 -
NR_110451.1 n.782_783delinsGC - non_coding_transcript_exon_variant 5/10 -